nsv3873930
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:31,891
- Description:
See descriptions for individual calls in download files - Publication(s):Kasak et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 343 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 343 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3873930 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 165,323,328 | 165,355,218 |
| nsv3873930 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 165,041,116 | 165,073,006 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122379 | deletion | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161324.1, VCV000156896.1 |
| nssv15122834 | deletion | Multiple | Multiple | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161323.1, VCV000156896.1 |
| nssv15123082 | deletion | Multiple | Multiple | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161322.1, VCV000156896.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122379 | Submitted genomic | NC_000003.12:g.165 323328_165355218de l | GRCh38 (hg38) | NC_000003.12 | Chr3 | 165,323,328 | 165,355,218 |
| nssv15122834 | Submitted genomic | NC_000003.12:g.165 323328_165355218de l | GRCh38 (hg38) | NC_000003.12 | Chr3 | 165,323,328 | 165,355,218 |
| nssv15123082 | Submitted genomic | NC_000003.12:g.165 323328_165355218de l | GRCh38 (hg38) | NC_000003.12 | Chr3 | 165,323,328 | 165,355,218 |
| nssv15122379 | Submitted genomic | NC_000003.11:g.165 041116_165073006de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,041,116 | 165,073,006 |
| nssv15122834 | Submitted genomic | NC_000003.11:g.165 041116_165073006de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,041,116 | 165,073,006 |
| nssv15123082 | Submitted genomic | NC_000003.11:g.165 041116_165073006de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,041,116 | 165,073,006 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122379 | GRCh37: NC_000003.11:g.165041116_165073006del, GRCh38: NC_000003.12:g.165323328_165355218del | deletion | unknown | Normal pregnancy | not provided | ClinVar | RCV000161324.1, VCV000156896.1 |
| nssv15122834 | GRCh37: NC_000003.11:g.165041116_165073006del, GRCh38: NC_000003.12:g.165323328_165355218del | deletion | unknown | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161323.1, VCV000156896.1 |
| nssv15123082 | GRCh37: NC_000003.11:g.165041116_165073006del, GRCh38: NC_000003.12:g.165323328_165355218del | deletion | unknown | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161322.1, VCV000156896.1 |